ClinVar Miner

List of variants in gene TTBK2 reported as likely pathogenic for autosomal dominant cerebellar ataxia

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_173500.4(TTBK2):c.1675del (p.Gln559fs) rs2140757755
NM_173500.4(TTBK2):c.239T>A (p.Phe80Tyr) rs778218227
NM_173500.4(TTBK2):c.322C>T (p.Gln108Ter) rs2140986045
NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter) rs770444240

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